Variant report

Variant	rs17135630
Chromosome Location	chr5:112785124-112785125
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112784529..112786185-chr5:112829996..112832714,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10428666	0.82[JPT][hapmap]
rs10900685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1116547	1.00[CEU][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11241201	0.92[CEU][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11241206	1.00[CEU][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11241209	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11738075	1.00[CEU][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11738215	1.00[CEU][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11741916	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11741963	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11744606	0.92[CEU][hapmap]
rs11747924	1.00[JPT][hapmap];0.80[YRI][hapmap];0.81[ASN][1000 genomes]
rs11748794	0.86[JPT][hapmap];0.81[YRI][hapmap]
rs11750945	0.91[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12152879	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12514091	0.86[JPT][hapmap]
rs12516418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12519323	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs12519753	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12519818	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12523255	1.00[CEU][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1443683	0.85[JPT][hapmap]
rs1517209	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1586943	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17135597	0.92[CEU][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17135608	1.00[CEU][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17135616	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17135753	0.86[JPT][hapmap]
rs17135754	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1833678	0.86[JPT][hapmap];0.88[YRI][hapmap];0.84[ASN][1000 genomes]
rs1850410	0.86[JPT][hapmap]
rs2042222	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[ASN][1000 genomes]
rs2068923	0.86[JPT][hapmap]
rs2416281	0.85[ASN][1000 genomes]
rs3846721	1.00[CEU][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3846722	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[ASN][1000 genomes]
rs4122546	0.87[ASN][1000 genomes]
rs4705551	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[ASN][1000 genomes]
rs4705558	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4705814	1.00[CEU][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4705817	0.92[CEU][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4705818	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4705819	0.88[CEU][hapmap];0.82[JPT][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4705826	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs59954246	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66490974	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs66497221	0.89[ASN][1000 genomes]
rs66502937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66583752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66644309	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66728961	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67103739	0.92[ASN][1000 genomes]
rs67268709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67303814	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67723806	0.81[ASN][1000 genomes]
rs67764628	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6861786	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6864369	0.86[JPT][hapmap];0.84[YRI][hapmap]
rs6864528	1.00[CEU][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6877524	0.86[JPT][hapmap]
rs6878001	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs6879800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6882900	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6883441	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6884704	1.00[JPT][hapmap]
rs6887565	0.92[CEU][hapmap]
rs6888602	0.92[CEU][hapmap]
rs72792179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72794121	0.81[ASN][1000 genomes]
rs73236478	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73241779	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73247445	0.85[ASN][1000 genomes]
rs7707443	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7717000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7729433	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs957777	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[YRI][hapmap];0.85[ASN][1000 genomes]
rs9800316	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112762000-112786000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:112764600-112786400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:112764800-112786800	Weak transcription	NHEK	skin
4	chr5:112770600-112786800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:112780400-112787400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:112782200-112789600	Enhancers	Fetal Stomach	stomach
7	chr5:112783800-112786000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:112784000-112787800	Weak transcription	Fetal Heart	heart
9	chr5:112784200-112785200	Weak transcription	Fetal Lung	lung

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